Gene
gdf6a
- ID
- ZDB-GENE-980526-373
- Name
- growth differentiation factor 6a
- Symbol
- gdf6a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable growth factor activity. Involved in retinal cell apoptotic process. Acts upstream of or within several processes, including blood vessel development; eye development; and regulation of signal transduction. Predicted to be located in extracellular region. Is expressed in several structures, including blood vessel; digestive system; fin; immature eye; and nervous system. Used to study microphthalmia. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 17; bone disease (multiple); cleft lip; cleft palate; and isolated microphthalmia 4. Orthologous to human GDF6 (growth differentiation factor 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 37 figures from 26 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb278 (30 images)
Wild Type Expression Summary
- All Phenotype Data
- 72 figures from 25 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| isolated microphthalmia 4 | Alliance | Microphthalmia, isolated 4 | 613094 |
| Klippel-Feil syndrome 1 | Alliance | Klippel-Feil syndrome 1, autosomal dominant | 118100 |
| Leber congenital amaurosis 17 | Alliance | Leber congenital amaurosis 17 | 615360 |
| multiple synostoses syndrome 4 | Alliance | Multiple synostoses syndrome 4 | 617898 |
| Microphthalmia with coloboma 6, digenic | 613703 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| microphthalmia | gdf6as327/s327 | standard conditions | French et al., 2013 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017948 | Transforming growth factor beta, conserved site |
| Domain | IPR001111 | TGF-beta, propeptide |
| Domain | IPR001839 | Transforming growth factor-beta, C-terminal |
| Family | IPR015615 | Transforming growth factor-beta-related |
| Homologous_superfamily | IPR029034 | Cystine-knot cytokine |
Domain Details Per Protein
| Protein | Additional Resources | Length | Cystine-knot cytokine | TGF-beta, propeptide | Transforming growth factor beta, conserved site | Transforming growth factor-beta, C-terminal | Transforming growth factor-beta-related |
|---|---|---|---|---|---|---|---|
| UniProtKB:P85857 | InterPro | 404 |
Interactions and Pathways
No data available
Plasmids
No data available